Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria

被引:0
|
作者
Lufeng Wang
Gulimire Kulaixi
Jiazireya Zaiyinati
Guzhalikezi Aibai
Danyang Du
Yanying Guo
机构
[1] Xinjiang Clinical Research Center for Diabetes,Department of Endocrinology, People′s Hospital of Xinjiang Uygur Autonomous Region
[2] Department of Endocrinology,undefined
来源
BMC Pediatrics | / 24卷
关键词
HHRH; Hypophosphatemia; Nephrocalcinosis; Hypercalciuria;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 35 条
  • [31] PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets
    Céline Gaucher
    Odile Walrant-Debray
    Thy-Minh Nguyen
    Laure Esterle
    Michèle Garabédian
    Frédéric Jehan
    Human Genetics, 2009, 125
  • [32] Nephrocalcinosis tendency does not worsen under burosumab treatment for X-linked hypophosphatemic rickets: a multicenter pediatric study
    Levi, Shelly
    Landau, Daniel
    Davidovits, Miriam
    Rootman, Mika Shapira
    Brener, Avivit
    Gal, Shoshana
    Borovitz, Yael
    Goldberg, Ori
    Bello, Rachel
    Cleper, Roxana
    Lebenthal, Yael
    Levy-Shraga, Yael
    Tiosano, Dov
    Chezana, Adi
    Regev, Ravit
    Zeitlin, Leonid
    FRONTIERS IN PEDIATRICS, 2024, 12
  • [33] A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): Mutational analysis, phenotypic variability and treatment challenges
    Burren, CP
    Curley, A
    Christie, P
    Rodda, CP
    Thakker, RV
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2005, 18 (07): : 689 - 699
  • [34] Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets
    Beck-Nielsen, Signe S.
    Brixen, Kim
    Gram, Jeppe
    Brusgaard, Klaus
    JOURNAL OF HUMAN GENETICS, 2012, 57 (07) : 453 - 458
  • [35] Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene
    White, KE
    Lorenz, B
    Evans, WE
    Meitinger, T
    Strom, TM
    Econs, MJ
    GENE, 2000, 246 (1-2) : 347 - 356